title: Twinkle mutations in two Chinese families with autosomal dominant progressive external ophthalmoplegia.
abstract: Autosomal dominant progressive external ophthalmoplegia (adPEO) is a common adult onset mitochondrial disease caused by mutations in nuclear DNA (nDNA). Twinkle is one of the nuclear genes associated with adPEO. Clinical, histochemical, and molecular genetics findings of 6 patients from two Chinese families with adPEO were reported. Two point mutations (c.1423G>C, p.A475P and c.1061G>C, p.R354P) of Twinkle gene have been found. Multiple mtDNA deletions were also detected in patient's muscle and fibroblasts. This study confirms two mutations in Chinese adPEO families, which were first reported in the Chinese population.
authors.affiliation: Laboratory of Neuromuscular Disorders, Department of Neurology, Qilu Hospital, Shandong University, Jinan, 250012, China.
authors.forename: Kunqian
authors.initials: K
authors.lastname: Ji
authors.forename: Kaiming
authors.initials: K
authors.lastname: Liu
authors.forename: Pengfei
authors.initials: P
authors.lastname: Lin
authors.forename: Bing
authors.initials: B
authors.lastname: Wen
authors.forename: Yue-Bei
authors.initials: YB
authors.lastname: Luo
authors.forename: Yuying
authors.initials: Y
authors.lastname: Zhao
authors.forename: Chuanzhu
authors.initials: C
authors.lastname: Yan
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D004265:DNA Helicases / Q000235:genetics*; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D024101:Mitochondrial Proteins / Q000235:genetics*; D018482:Muscle, Skeletal / Q000473:pathology; D017246:Ophthalmoplegia, Chronic Progressive External / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*
chemical_list: D024101:Mitochondrial Proteins; D004265:DNA Helicases; C431576:TWNK protein, human